Hereditary Transthyretin Amyloidosis

Back to Curriculum

Hereditary Transthyretin Amyloidosis (hATTR) is an inherited condition in which an abnormal form of the transthyretin protein misfolds and accumulates as amyloid deposits in tissues throughout the body. Transthyretin is a protein made primarily by the liver that normally transports thyroid hormone and vitamin A in the blood. Mutations in the TTR gene cause the protein to become unstable and form harmful deposits.

The condition has variable presentations depending on where amyloid deposits accumulate. The main forms include familial amyloid polyneuropathy (FAP), which affects the nerves, and familial amyloid cardiomyopathy (FAC), which affects the heart. Many patients have overlapping symptoms affecting multiple organ systems including the nerves, heart, gastrointestinal tract, kidneys, and eyes.

Symptoms typically begin between ages 30 and 70 and are progressive. Neurological symptoms include numbness and tingling in the hands and feet, weakness, pain, and autonomic dysfunction (affecting blood pressure, digestion, and sexual function). Cardiac symptoms include shortness of breath, irregular heartbeat, and heart failure. Gastrointestinal symptoms include nausea, vomiting, diarrhea, constipation, and weight loss.

hATTR is caused by mutations in the TTR gene and is inherited in an autosomal dominant pattern. Over 130 different mutations have been identified, with varying penetrance and clinical features. The V30M mutation is most common in endemic areas (Portugal, Japan, Sweden). Multiple treatments are now available including TTR stabilizers (tafamidis), TTR silencers (patisiran, inotersen), and liver transplantation.

NutraHacker examines the following gene related to Hereditary Transthyretin Amyloidosis:

For more information about your own genetic profile as related to Hereditary Transthyretin Amyloidosis, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload WGS raw DNA data and find out more about your critical genetics profile today.